Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1G
Variant:p.D1279N
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CACNA1G

NM_018896.5:p.D1279N

Associated Papers

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.

De Riggi M et al.

Cerebellum (london, England), 2024

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."